Grandjouan S
Consultation d'Oncogénétique Digestive, Service d'Hépato-Gastroentérologie, CHU Cochin, 27, rue du Faubourg-Saint-Jacques, 75014 Paris.
Ann Med Interne (Paris). 2001 Jun;152(4):262-6.
Inherited conditions predisposing to cancers have long been recognized. Specific medical recommendations have more recently been proposed to avoid the development of advanced cancers in such high-risk families. The identification of the first genes involved in monogenic dominant cancer-prone conditions have opened the ways to their predictive diagnosis in asymptomatic members in at-risk families. The development of such procedures has required specific involvement for clinicians and molecular geneticians. The example of familial predispositions to colonic cancers has been chosen to illustrate the practical issues, and to help the physicians in charge of at-risk families to offer their patients an access to these emerging possibilities in cancer prevention. A table summarizes the practical issues requested to refer a family and initiate the procedure of molecular testing.
长期以来,人们一直认识到存在易患癌症的遗传状况。最近有人提出了具体的医学建议,以避免此类高危家庭中晚期癌症的发生。参与单基因显性癌症易患疾病的首批基因的鉴定,为在高危家庭的无症状成员中进行预测性诊断开辟了道路。开展此类检测需要临床医生和分子遗传学家的特别参与。本文选择结肠癌家族易感性的例子来说明实际问题,并帮助负责高危家庭的医生为其患者提供利用这些新兴癌症预防可能性的途径。一个表格总结了转诊一个家庭并启动分子检测程序所需的实际问题。